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Your search keyword '"Bevova, Marianna R."' showing total 10 results
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10 results on '"Bevova, Marianna R."'

1. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Author

Bettencourt, Conceição, de Yébenes, Justo García, López-Sendón, José Luis, Shomroni, Orr, Zhang, Xingqian, Qian, Shu-Bing, Bakker, Ingrid M. C., Heetveld, Sasja, Ros, Raquel, Quintáns, Beatriz, Sobrido, María-Jesús, Bevova, Marianna R., Jain, Shushant, Bugiani, Marianna, Heutink, Peter, and Rizzu, Patrizia

Published
2015
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2. Chromosome-wise dissection of the genome of the extremely big mouse line DU6i

Author

Bevova, Marianna R., Aulchenko, Yurii S., Aksu, Soner, Renne, Ulla, and Brockmann, Gudrun A.

Subjects
Quantitative trait loci -- Research, Y chromosome -- Research, Genetic variation -- Research, Mice -- Genetic aspects, Mice -- Physiological aspects, Mice -- Research, Biological sciences
Abstract

The extreme high-body-weight-selected mouse line DU6i is a polygenic model for growth research, harboring many small-effect QTL. We dissected the genome of this line into 19 autosomes and the Y chromosome by the construction of a new panel of chromosome substitution strains (CSS). The DU6i chromosomes were transferred to a DBA/2 mice genetic background by marker-assisted recurrent backcrossing. Mitochondria and the X chromosome were of DBA/2 origin in the backcross. During the construction of these novel strains, >4000 animals were generated, phenotyped, and genotyped. Using these data, we studied the genetic control of variation in body weight and weight gain at 21, 42, and 63 days. The unique data set facilitated the analysis of chromosomal interaction with sex and parent-of-origin effects. All analyzed chromosomes affected body weight and weight gain either directly or in interaction with sex or parent of origin. The effects were age specific, with some chromosomes showing opposite effects at different stages of development.

Published
2006

3. Direct chromosome-length haplotyping by single-cell sequencing

Author

Porubský, David, primary, Sanders, Ashley D., additional, van Wietmarschen, Niek, additional, Falconer, Ester, additional, Hills, Mark, additional, Spierings, Diana C.J., additional, Bevova, Marianna R., additional, Guryev, Victor, additional, and Lansdorp, Peter M., additional

Published
2016
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4. Resequencing Three Candidate Genes for Major Depressive Disorder in a Dutch Cohort

Author

Verbeek, Eva C., primary, Bevova, Marianna R., additional, Bochdanovits, Zoltán, additional, Rizzu, Patrizia, additional, Bakker, Ingrid M. C., additional, Uithuisje, Tiny, additional, De Geus, Eco J., additional, Smit, Johannes H., additional, Penninx, Brenda W., additional, Boomsma, Dorret I., additional, Hoogendijk, Witte J. G., additional, and Heutink, Peter, additional

Published
2013
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5. Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Author

Taft, Ryan J., primary, Vanderver, Adeline, additional, Leventer, Richard J., additional, Damiani, Stephen A., additional, Simons, Cas, additional, Grimmond, Sean M., additional, Miller, David, additional, Schmidt, Johanna, additional, Lockhart, Paul J., additional, Pope, Kate, additional, Ru, Kelin, additional, Crawford, Joanna, additional, Rosser, Tena, additional, de Coo, Irenaeus F.M., additional, Juneja, Monica, additional, Verma, Ishwar C., additional, Prabhakar, Prab, additional, Blaser, Susan, additional, Raiman, Julian, additional, Pouwels, Petra J.W., additional, Bevova, Marianna R., additional, Abbink, Truus E.M., additional, van der Knaap, Marjo S., additional, and Wolf, Nicole I., additional

Published
2013
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6. Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Author

Nota, Benjamin, primary, Struys, Eduard A., additional, Pop, Ana, additional, Jansen, Erwin E., additional, Fernandez Ojeda, Matilde R., additional, Kanhai, Warsha A., additional, Kranendijk, Martijn, additional, van Dooren, Silvy J.M., additional, Bevova, Marianna R., additional, Sistermans, Erik A., additional, Nieuwint, Aggie W.M., additional, Barth, Magalie, additional, Ben-Omran, Tawfeg, additional, Hoffmann, Georg F., additional, de Lonlay, Pascale, additional, McDonald, Marie T., additional, Meberg, Alf, additional, Muntau, Ania C., additional, Nuoffer, Jean-Marc, additional, Parini, Rossella, additional, Read, Marie-Hélène, additional, Renneberg, Axel, additional, Santer, René, additional, Strahleck, Thomas, additional, van Schaftingen, Emile, additional, van der Knaap, Marjo S., additional, Jakobs, Cornelis, additional, and Salomons, Gajja S., additional

Published
2013
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7. A Fine-Mapping Study of 7 Top Scoring Genes from a GWAS for Major Depressive Disorder

Author

Verbeek, Eva C., primary, Bakker, Ingrid M. C., additional, Bevova, Marianna R., additional, Bochdanovits, Zoltán, additional, Rizzu, Patrizia, additional, Sondervan, David, additional, Willemsen, Gonneke, additional, de Geus, Eco J., additional, Smit, Johannes H., additional, Penninx, Brenda W., additional, Boomsma, Dorret I., additional, Hoogendijk, Witte J. G., additional, and Heutink, Peter, additional

Published
2012
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8. Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

Author

Einarsdottir, Elisabet, primary, Bevova, Marianna R, additional, Zhernakova, Alexandra, additional, Monsuur, Alienke, additional, Koskinen, Lotta LE, additional, Slot, Ruben van't, additional, Mulder, Chris, additional, Mearin, M Luisa, additional, Korponay-Szabo, Ilma R, additional, Kaukinen, Katri, additional, Kurppa, Kalle, additional, Kere, Juha, additional, Mäki, Markku, additional, Wijmenga, Cisca, additional, and Saavalainen, Päivi, additional

Published
2011
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9. Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

Author

Monsuur, Alienke J, primary, Bakker, Paul I W de, additional, Alizadeh, Behrooz Z, additional, Zhernakova, Alexandra, additional, Bevova, Marianna R, additional, Strengman, Eric, additional, Franke, Lude, additional, Slot, Ruben van't, additional, Belzen, Martine J van, additional, Lavrijsen, Ineke C M, additional, Diosdado, Begoña, additional, Daly, Mark J, additional, Mulder, Chris J J, additional, Mearin, M Luisa, additional, Meijer, Jos W R, additional, Meijer, Gerrit A, additional, Oort, Erica van, additional, Wapenaar, Martin C, additional, Koeleman, Bobby P C, additional, and Wijmenga, Cisca, additional

Published
2005
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